Atypical presentation of scleroderma in infancy

Area of Science:

• Pediatric Rheumatology
• Dermatology
• Neonatology

Background:

• Scleroderma is a rare autoimmune disease characterized by skin and connective tissue hardening.
• Early-onset scleroderma in infants presents unique diagnostic and management challenges.
• This case highlights a severe presentation with systemic involvement.

Observation:

• A female infant developed progressive skin tightening, joint contractures, and limited mouth opening from 6 weeks of age.
• Systemic manifestations included anemia, failure to thrive, recurrent diarrhea, and ascites.
• Skin biopsy confirmed scleroderma; echocardiography revealed an inferior vena cava thrombus.

Findings:

• The infant's scleroderma onset at 6 weeks is among the youngest reported.
• Serological markers for autoimmune diseases were negative, complicating diagnosis.
• Inferior vena cava thrombosis in a pediatric scleroderma case is a novel finding.

Implications:

• This case underscores the importance of considering scleroderma even with negative serological markers in neonates.
• The co-occurrence of thrombosis suggests a potential link requiring further investigation.
• Highlights the need for early diagnosis and multidisciplinary management in severe pediatric scleroderma.